HuGE Literature Finder
Records 1-7
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Molecular genetics of cone-rod dystrophy in Chinese patients: new data from 61 probands and mutation overview of 163 probands.
Experimental eye research 2016 Mar . Huang Li, Xiao Xueshan, Li Shiqiang, Jia Xiaoyun, Wang Panfeng, Sun Wenmin, Xu Yan, Xin Wei, Guo Xiangming, Zhang Qingjio |
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Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies.
Molecular vision 2016 22 150-60. Oishi Maho, Oishi Akio, Gotoh Norimoto, Ogino Ken, Higasa Koichiro, Iida Kei, Makiyama Yukiko, Morooka Satoshi, Matsuda Fumihiko, Yoshimura Nagahi |
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GUCY2D mutations in a Chinese cohort with autosomal dominant cone or cone-rod dystrophies.
Documenta ophthalmologica. Advances in ophthalmology 2015 Oct 131 (2): 105-14. Jiang Feng, Xu Ke, Zhang Xiaohui, Xie Yue, Bai Fengge, Li Ya |
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Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.
Orphanet journal of rare diseases 2015 10 (1): 85. Boulanger-Scemama Elise, El Shamieh Said, Démontant Vanessa, Condroyer Christel, Antonio Aline, Michiels Christelle, Boyard Fiona, Saraiva Jean-Paul, Letexier Mélanie, Souied Eric, Mohand-Saïd Saddek, Sahel José-Alain, Zeitz Christina, Audo Isabel |
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Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis.
Journal of ophthalmology 2015 2015 693468. Hosono Katsuhiro, Harada Yuko, Kurata Kentaro, Hikoya Akiko, Sato Miho, Minoshima Shinsei, Hotta Yoshihi |
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Screening for variants in 20 genes in 130 unrelated patients with cone-rod dystrophy.
Molecular medicine reports 2013 Jun 7 (6): 1779-85. Huang Li, Li Shiqiang, Xiao Xueshan, Jia Xiaoyun, Wang Panfeng, Guo Xiangming, Zhang Qingjio |
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Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.
Molecular vision 2009 15 1781-7. Sundaresan Periasamy, Vijayalakshmi P, Thompson Stewart, Ko Audrey C, Fingert John H, Stone Edwin |
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- Page last updated:May 25, 2020
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